Intrauterine growth retardation, and Acidosis

Diseases related with Intrauterine growth retardation and Acidosis

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Acidosis that can help you solving undiagnosed cases.

Top matches:

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Related symptoms:

  • Intrauterine growth retardation
  • Hyperglycemia
  • Maturity-onset diabetes of the young
  • Diabetic ketoacidosis


SOURCES: OMIM MENDELIAN

More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Growth delay
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

Other less relevant matches:

GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).

GRACILE SYNDROME Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|lactic acidosis, finnish, with hepatic hemosiderosis|fellman syndrome

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Intrauterine growth retardation
  • Acidosis
  • Neonatal hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GRACILE SYNDROME

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Acidosis

Symptoms // Phenotype % cases
Lactic acidosis Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
Neonatal hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Metabolic acidosis Seizures Cardiomyopathy Hypertrophic cardiomyopathy Global developmental delay Anemia Hearing impairment

Rare Symptoms - Less than 30% cases

Abnormality of mitochondrial metabolism Respiratory distress Ascites Dysphagia Respiratory insufficiency Patent ductus arteriosus Severe intrauterine growth retardation Sensorineural hearing impairment EEG abnormality Intellectual disability Encephalopathy Microcephaly Feeding difficulties Diabetic ketoacidosis Visual impairment Congestive heart failure Hyperglycemia Arrhythmia Infantile muscular hypotonia Abnormal mitochondrial morphology Oroticaciduria Decreased activity of mitochondrial complex I Cytochrome C oxidase-negative muscle fibers Hyperalaninemia Abnormality of the basal ganglia Polymicrogyria Dilated cardiomyopathy Premature birth Muscular hypotonia Respiratory failure Failure to thrive Abnormality of brain morphology Progressive encephalopathy Opisthotonus Muscular hypotonia of the trunk Developmental regression Hyperammonemia Hepatic failure Leukodystrophy Upslanted palpebral fissure Myocardial necrosis Scoliosis Astrocytosis Motor deterioration Hypoplastic left heart Neonatal respiratory distress Bradycardia Neuronal loss in central nervous system Epileptic encephalopathy Polyneuropathy Mental deterioration Cerebellar hypoplasia Cerebellar atrophy Proximal renal tubular acidosis Decreased activity of mitochondrial complex IV Renal tubular acidosis Postaxial polydactyly Poor speech Synophrys Aggressive behavior Polydactyly Hyperactivity Epicanthus Depressed nasal bridge Cryptorchidism Cleft palate Hyperglutaminemia Hypertonia Maternal diabetes Hepatomegaly Aciduria Hypertension Decreased transferrin saturation Chronic lactic acidosis Elevated hepatic iron concentration Increased serum iron Renal Fanconi syndrome Increased serum pyruvate Increased serum ferritin Aminoaciduria Cholestasis Hepatitis Hepatic steatosis Edema Cirrhosis Abnormality of the mitochondrion Difficulty running Macrocytic anemia Dysmetria Intellectual disability, mild Tremor Skeletal muscle atrophy Delayed speech and language development Maturity-onset diabetes of the young Feeding difficulties in infancy Cognitive impairment Ventricular septal defect Thrombocytopenia Spasticity Iron deficiency anemia Nystagmus Jejunal atresia Acholic stools Annular pancreas Absent gallbladder Meckel diverticulum Pancreatic hypoplasia Biliary atresia Intestinal atresia Duodenal atresia Ketoacidosis Anteriorly placed anus Oligohydramnios Tracheoesophageal fistula Hyperbilirubinemia Gastrointestinal hemorrhage Intestinal malrotation Sepsis Malabsorption Diabetes mellitus Diarrhea Sideroblastic anemia Extramedullary hematopoiesis Pericardial effusion Decreased liver function Decreased activity of mitochondrial respiratory chain


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